Researchers are closer to finding a better way to treat children with a rare metabolic disorder called MPS I. It is caused by a deficiency of the key enzyme IDUA needed to break down complex sugars in cells. MPS I eventually ...

Researchers at Duke Health have identified a potential new avenue for treating Pompe disease, a rare condition caused by the build-up of glycogen, a storage form of sugar, in cardiac and skeletal muscle, the liver and other ...

Valerie Byers had long suspected that her son Will's diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February, she knew instantly that 5-year-old ...

Among previously untreated adults with Gaucher disease type 1, a genetic disease in which there is improper metabolism due to a defect in an enzyme, treatment with the drug eliglustat resulted in significant improvements ...

REGENXBIO Inc. today announced that gene transfer mediated by REGENXBIO's NAV AAV8 vectors resulted in sustained serum α-L-iduronidase (IDUA) expression, as well as correction of systemic features of MPS I, or Hurler syndrome, ...

In the second of two papers outlining new gene-therapy approaches to treat a rare disease called MPS I, researchers from Perelman School of Medicine at the University of Pennsylvania examined systemic delivery of a vector ...

MPS IIIB is a devastating and currently untreatable disease that causes progressive damage to the brain, leading to profound intellectual disability, dementia and death—often before reaching adulthood.

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under ...